Single Gene Disorder Testing (PGD)

Single Gene Disorder Testing

Single gene disorders are genetic conditions caused by mutation of a specific gene. These are often heritable (they run in families), and therefore, individuals with a family history of a single gene disorder may be at risk for passing the condition onto their children.

Examples of some common single gene disorders include:

  • Cystic fibrosis (CF)
  • Sickle cell anaemia
  • Tay-Sachs disease
  • Myotonic dystrophy
  • Duchene muscular dystrophy (DMD)
  • Fragile X syndrome
  • Spinal muscular atrophy

About PGD

Preimplantation genetic diagnosis (or PGD) is a testing procedure used when either of the parent has been diagnosed with a genetic abnormality. Testing is performed on the embryos to determine if they are carriers of the genetic abnormality before implantation.

Aster IVF is one of the early adapters using next generation sequencing (NGS) technology for preimplantation genetic diagnosis (PGD). NGS is far superior to real-time PCR techniques that are the current standard.
Next generation sequencing (NGS) combines the power of single mutation detection and complete 24-chromosome aneuploidy screening. Both tests are performed simultaneously on the same embryo.

Aster IVF can test embryos for single gene disorders prior to implantation and select only embryos that are free of genetic defects.

PGD is available for a large number of genetic disorders such as:

    • Hereditary cancer
    • Cystic fibrosis
    • Haemophilia
    • Spinal muscular atrophy type 1
    • Glycogen storage
    • Sickle cell disease
    • Tay-Sachs disease
    • Alpha-thalassemia
    • Beta-thalassemia
    • Myotonic dystrophy
    • Huntington’s disease
    • Charcot-Marie-Tooth disease
    • Fragile X syndrome
    • Duchene muscular dystrophy

When is PGD recommended?

PGD is recommended when parents are likely to transmit a known genetic disorder to their children. Once PGD is performed, only healthy embryos free of genetic defects are transferred into the mother’s uterus. This procedure greatly reduces the risk of the child inheriting a genetic disorder and of late pregnancy termination.

PGD testing is performed for 3 major categories of genetic disorders:
      • Single gene defects
      • Sex-linked disorders
      • Chromosomal disorders

PGD or PGS?

Preimplantation Genetic Screening (PGS) is used to perform a general screening of embryos and does not look for a specific disease. PGS uses PGD techniques and technology to identify embryos at risk.

Contact us today to get your questions answered or if you are unsure if PGD is right for your circumstance.

Contact Us

Fill your contact information in this form, and we’ll get back to you as soon as possible (usually within 48 hours).

 

 

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